R48G (p.Arg48Gly) variant of SHANK2 (Q9UPX8)
R48G (p.Arg48Gly) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- gnomAD rs1555106873
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 14.30
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)